Woodhouse-Sakati sendromu

Kalıtsal - AR

Hipogonadizm (kızlarda amenore, kız ve erkeklerde sekonder cinsiyet karakterlerinin yokluğu)

“Insulin-like growth factor 1 (IGF-1)” eksikliği

Diabetes mellitus (tip 2)

Hiperlipidemi

Hipotiroidizm

Alopesi (saç ve kaşların tam dökülmesi)

Deride erken yaşlanma

Yüz üçgen biçiminde

Edinsel hipodonti (diş kaybı)

Yutma güçlüğü

Gelişme geriliği

Psikomotor gerilik

Nörolojik bozukluklar

Konuşma-İşitme sorunları

Zeka geriliği

 

  • Al-Semari A, Bohlega S. Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1. American Journal of Medical Genetics A, 143A:149–160, 2007

  • Medica I, Sepcic J, Peterlin B. Woodhouse-Sakati syndrome: case report and symptoms review. Genetic Counseling, 18: 227-231, 2007

  • Alazami AM, Schneider SA, Bonneau D, et al. C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. Clinical Genetics, 78: 585-590, 2010

  • Steindl K, Alazami AM, Bhatia KP, et al. A novel C2orf37 mutation causes the first Italian cases of Woodhouse-Sakati syndrome. Clinical Genetics, 78:594–597, 2010

  • Agopiantz M, Corbonnois P, Sorlin A, et al. Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature. Journal of Endocrinological Investigation, 37:1–7, 2014